Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.L29insFs

PSENEN

78 papers

RefSeq Summary

Presenilins, which are components of the gamma-secretase protein complex, are required for intramembranous processing of some type I transmembrane proteins, such as the Notch proteins and the beta-amy...

Pfam Domains

PEN-2aa 7–99UCSCPresenilin enhancer-2 subunit of gamma secretase

Gene Aliases

HGNC Name

presenilin enhancer, gamma-secretase subunit

HGNC Alias Symbol

PEN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172341.4
p.L29insFs
c.85dupC
Surrounding Variants
4 papers
NM_172341.4
p.L29fs
c.85_86fs
1 paper
NM_172341.4
p.F28C
c.83T>G
8 papers
NM_172341.4
p.F28_L29insFs
c.84_85insT
1 paper
NM_172341.4
p.P27A
c.79C>G
1 paper
NM_172341.4
p.W30*
c.89G>A
1 paper
NM_172341.4
p.W30C
c.90G>C
1 paper
NM_172341.4
p.W30C
c.90G>T
1 paper
NM_172341.4
p.L26P
c.77T>C
1 paper
NM_172341.4
p.F25C
c.74T>G
1 paper
NM_172341.4
p.F25L
c.73T>C
1 paper
NM_172341.4
p.A24D
c.71C>A
1 paper
NM_172341.4
p.F23C
c.68T>G
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